Linked Data
ClinVar Variation Id:
21040
dbSNP Id:
rs80356704
ExAC:
7:143039031 C / T
gnomAD v2:
7-143039031-C-T
gnomAD v3:
7-143341938-C-T
gnomAD v4:
7-143341938-C-T
PubMed:
PMID:20301529
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143341938C>T , CM000669.2:g.143341938C>T | GRCh38 |
| NC_000007.13:g.143039031C>T , CM000669.1:g.143039031C>T | GRCh37 |
| NC_000007.12:g.142749153C>T | NCBI36 |
| NG_009815.1:g.30813C>T | |
| NG_009815.2:g.30813C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650516.2:c.1592C>T | ENSP00000498052.2:p.Ala531Val | |
| ENST00000343257.7:c.1592C>T MANE Select | ENSP00000339867.2:p.Ala531Val | |
| ENST00000432192.6:c.1416C>T | ||
| ENST00000343257.6:c.1592C>T | ENSP00000339867.2:p.Ala531Val | |
| NM_000083.2:c.1592C>T | NP_000074.2:p.Ala531Val | |
| NR_046453.1:n.1532C>T | ||
| XM_011515781.1:c.1616C>T | XP_011514083.1:p.Ala539Val | |
| XM_011515782.1:c.338C>T | XP_011514084.1:p.Ala113Val | |
| XM_011515782.2:c.338C>T | XP_011514084.1:p.Ala113Val | |
| XM_017011739.1:c.1166C>T | XP_016867228.1:p.Ala389Val | |
| XM_017011740.1:c.1142C>T | XP_016867229.1:p.Ala381Val | |
| NM_000083.3:c.1592C>T MANE Select | NP_000074.3:p.Ala531Val | |
| NR_046453.2:n.1547C>T |